NM_001845.5(COL4A1):c.3611G>A (p.Gly1204Glu) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Aug 14, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000489733.1

Allele description

NM_001845.5(COL4A1):c.3611G>A (p.Gly1204Glu)

Gene:
COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_001845.5(COL4A1):c.3611G>A (p.Gly1204Glu)
HGVS:
  • NC_000013.11:g.110170678C>T
  • NG_011544.2:g.141472G>A
  • NM_001845.5:c.3611G>A
  • NP_001836.3:p.Gly1204Glu
  • NC_000013.10:g.110823025C>T
  • NM_001845.4:c.3611G>A
Protein change:
G1204E
Links:
dbSNP: rs1085307907
NCBI 1000 Genomes Browser:
rs1085307907
Molecular consequence:
  • NM_001845.5:c.3611G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000577646GeneDxcriteria provided, single submitter
Likely pathogenic
(Aug 14, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000577646.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The G1204E variant in the COL4A1 gene has not been published as a pathogenic variatn, nor has it been reported as a benign polymorphism to our knowledge. The G1204E variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G1204E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position in the triple helical region, specifically the Glycine residue in the Gly-X-Y repeat, that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The G1204E variant is a strong candidate for a disease-causing variant However, the possibility it may be a rare benign variant cannot be excluded.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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